Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001223222 | SCV001395361 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu456*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 951337). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV003346387 | SCV004052582 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | The p.E456* pathogenic mutation (also known as c.1366G>T), located in coding exon 9 of the BRCA2 gene, results from a G to T substitution at nucleotide position 1366. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Fulgent Genetics, |
RCV005012633 | SCV005634405 | pathogenic | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer | 2024-03-12 | criteria provided, single submitter | clinical testing |